p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease

Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including...

Full description

Saved in:
Bibliographic Details
Published inAnatolian journal of cardiology Vol. 26; no. 5; pp. 411 - 413
Main Authors Barman, Hasan Ali, Atıcı, Adem, Özyıldırım, Serhan, Ceylaner, Serdar, Dursun, Memduh, Doğan, Sait Mesut
Format Journal Article
LanguageEnglish
Published Turkey Turkish Society of Cardiology 01.05.2022
KARE Publishing
Subjects
alpha-Galactosidase - genetics
Case Report
Fabry Disease - diagnosis
Fabry Disease - genetics
Humans
Mutation
Phenotype
Online AccessGet full text

Cover

More Information
Summary:Fabry disease is a progressive and rare storage disease that occurs due to low or complete deficiency of lysosomal alpha galactosidase-A (α-GLA) enzyme activity. Low alpha galactosidase-A enzyme activity causes progressive accumulation of globotriaosylceramide in various tissues and organs including the myocardium, kidney, and nervous system. Left ventricular hypertrophy (LVH) is the most common cause of cardiac involvement in patients with Fabry disease. Over a thousand different mutations have been identified in the GLA gene up to now. We describe a case of a 54-year-old male with Fabry disease due to a novel GLA gene mutation.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
content type line 23
Cite this article as: Barman HA, Atıcı A, Özyıldırım S, Ceylaner S, Dursun M, Doğan SM. p.R220L is a likely pathogenic novel GLA gene mutation responsible for Fabry disease. Anatol J Cardiol 2022;26(5):411-413.
ISSN:2149-2263
2149-2271
DOI:10.5152/AnatolJCardiol.2021.393